Results 41 to 50 of about 41,374 (252)

Case Report: UMOD gene mutation and phenotypic overlap with REN in autosomal dominant tubulointerstitial kidney disease

Frontiers in Genetics
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a rare monogenic kidney disorder characterized by progressive tubular atrophy and interstitial fibrosis. It is primarily associated with pathogenic variants in genes such as UMOD (uromodulin)
Jingying Xu, Jingying Xu, Enhui Chen, Enhui Chen, Wen Shi, Wen Shi, Wenhui He, Wenhui He, Dongrong Yu, Xianfa Li   +9 more
doaj   +1 more source

Fusogenic RNA Nanomodules for Fusion‐Mediated and Multiplexed siRNA Delivery

Advanced Functional Materials, EarlyView.
A fusogenic lipid‐layered RNA nanomodules (L‐CRAMs) enable high‐capacity and long‐lasting siRNA delivery through membrane fusion. These nanomodules carry exceptionally large siRNA payloads, avoid conventional endosomal uptake, and release multiple functional siRNAs through Dicer‐mediated processing.
Sunghyun Moon, Iksoo Jang, Taehyeon Kim, Nayoung Yoon, Kyuha Yum, Jong Bum Lee   +5 more
wiley   +1 more source

Ischemic preconditioning promotes hepatic differentiation in human liver organoids

Frontiers in Cell and Developmental Biology
IntroductionLiver regeneration is essential for successful outcomes after liver transplantation. However, ischemia-reperfusion injury (IRI) remains a major determinant of graft dysfunction that can profoundly affect hepatic regenerative responses ...
Maura Cimino, Rosaria Tinnirello, Andrea Orlando, Andrea Orlando, Simone Messina, Salvatore Gruttadauria, Salvatore Gruttadauria, Salvatore Gruttadauria, Duilio Pagano, Duilio Pagano, Pier Giulio Conaldi, Alessandro Mattina, Alessandro Mattina, Riccardo Perriera, Giovanni Zito, Massimo Pinzani, Vitale Miceli   +16 more
doaj   +1 more source

Cholestatic jaundice in infancy: struggling with many old and new phenotypes

Italian Journal of Pediatrics, 2019
Background Clinical diagnosis of neonatal cholestasis is considered to be an extremely challenging process. Here we highlight the importance not only of the prompt distinction between extrahepatic and intrahepatic cholestasis forms, but also of the ...
Claudia Mandato, Giada Zollo, Pietro Vajro   +2 more
doaj   +1 more source

Mutant MMP-9 and HGF gene transfer enhance resolution of CCl4-induced liver fibrosis in rats: role of ASH1 and EZH2 methyltransferases repression. [PDF]

PLoS ONE, 2014
Hepatocyte growth factor (HGF) gene transfer inhibits liver fibrosis by regulating aberrant cellular functions, while mutant matrix metalloproteinase-9 (mMMP-9) enhances matrix degradation by neutralizing the elevated tissue inhibitor of ...
Hussein Atta, Mahmoud El-Rehany, Olfat Hammam, Hend Abdel-Ghany, Maggie Ramzy, Martin Roderfeld, Elke Roeb, Ayman Al-Hendy, Salama Abdel Raheim, Hatem Allam, Heba Marey   +10 more
doaj   +1 more source

Nonsense and Missense Mutations in the Human Hepatocyte Nuclear Factor-1β Gene (TCF2) and Their Relation to Type 2 Diabetes in Japanese [PDF]

The Journal of Clinical Endocrinology & Metabolism, 2002
Mutations in transcription factors expressed in the pancreatic beta-cell are a major cause of maturity-onset diabetes of the young (MODY). They have also been found in patients diagnosed with type 1 and type 2 diabetes mellitus, which may highlight the difficulty in diagnosing these forms of diabetes or perhaps indicate a direct role in the development
Hiroto, Furuta, Machi, Furuta, Tokio, Sanke, Kunihiro, Ekawa, Tadashi, Hanabusa, Masahiro, Nishi, Hideyuki, Sasaki, Kishio, Nanjo   +7 more
openaire   +2 more sources

Engineering Nanoplatforms for Alzheimer's Disease Detection via Biomolecular Corona Proteomic and Lipidomic Profiling

Advanced Healthcare Materials, EarlyView.
Engineered nanoparticles capture disease‐specific biomolecular coronas that uncover hidden molecular features of Alzheimer's disease. Combined proteomic and lipidomic analyses reveal a characteristic shift in ribosomal machinery and energy metabolism, generating a multiomic fingerprint that supports accurate disease detection and opens new ...
Antonietta Greco, Roberto Baretta, Andrea Di Fonzo, Andrea Armirotti, Stefano Cinti, Mara Mirasoli, Marco Frasconi, Claudia Corbo   +7 more
wiley   +1 more source

Thyroid metastasis from ovarian clear cell carcinoma

Endocrinology, Diabetes & Metabolism Case Reports
A 56-year-old woman with cervical pain with a history of ovarian clear cell carcinoma stage IIIC was admitted to a primary care doctor. Ultrasonography revealed a microhyperechoic nodule in the thyroid gland and cervical lymph node enlargement, and fine ...
Rika Sasaki, Haruhiko Yamazaki, Eita Kumagai, Soji Toda, Aya Saito   +4 more
doaj   +1 more source

Serum levels of pancreatic stone protein (PSP)/reg1A as an indicator of beta-cell apoptosis suggest an increased apoptosis rate in hepatocyte nuclear factor 1 alpha (HNF1A-MODY) carriers from the third decade of life onward

BMC Endocrine Disorders, 2012
Background Mutations in the transcription factor hepatocyte nuclear factor-1-alpha (HNF1A) result in the commonest type of maturity onset diabetes of the young (MODY).
Bacon Siobhan, Kyithar Ma, Schmid Jasmin, Rizvi Syed R, Bonner Caroline, Graf Rolf, Prehn Jochen HM, Byrne Maria M   +7 more
doaj   +1 more source

Immunohistochemical expression of napsin A and hepatocyte nuclear factor-1-beta in Arias-Stella reaction

, 2020
Background: Arias-Stella reaction is a spectrum of benign cellular changes which is associated with exogenous progestogens or pregnancy. Histologically, this reaction is characterized by striking nuclear atypia with or without clear cytoplasm and can potentially mimic clear cell carcinoma.
openaire   +1 more source